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Androgent insensitivitetssyndrom opdaget pga. diskordans mellem prænatale vurderinger af fosterkøn

Forfatter(e)
Cæcilie Trier1, Line Hartvig Cleemann2, Brian Rafn Hjelvang1, Louise Ambye3, 4 & Finn Stener Jørgensen3, 5, 6
1) Børne- og Ungeafdelingen, Hvidovre Hospital 2) Klinik for Vækst og Reproduktion, Rigshospitalet 3) Hvidovre Hospitals NIPT Center, Hvidovre Hospital 4) Klinisk Biokemisk Afdeling, Hvidovre Hospital 5) Ultralydklinikken, Gynækologisk Obstetrisk Afdeling, Hvidovre Hospital 6) Det Sundhedsvidenskabelige Fakultet, Københavns Universitet

Ugeskr Læger 2019;181:V09190503
Reference: 
Ugeskr Læger 2019;181:V09190503
Blad nummer: 

Cæcilie Trier, Line Hartvig Cleemann, Brian Rafn Hjelvang, Louise Ambye & Finn Stener Jørgensen:

Androgen insensitivity syndrome discovered due to discordance in prenatal assessments of fetal gender

Ugeskr Læger 2019;181:V09190503

In this case report, a pregnant woman chose non-invasive prenatal testing (NIPT) following a combined first-trimester screening showing a risk of trisomy 21 at 1:200. The NIPT was normal, and the sex of the fetus was predicted to be male. At 20 gestational weeks, an ultrasound examination predicted the fetus to be female. Because of these discordant results, an amniocentesis was offered but declined. The child was postnatally tested with a karyotype: 46,XY and found heterozygous for a pathogenic variant in the androgen receptor gene, which may cause partial or complete androgen insensitivity syndrome.

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